NM_007294.4(BRCA1):c.4096+1G>A AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (5 submissions)
Last evaluated:: Oct 11, 2023
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000048441.33

Allele description [Variation Report for NM_007294.4(BRCA1):c.4096+1G>A]

NM_007294.4(BRCA1):c.4096+1G>A

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4096+1G>A

HGVS:

NC_000017.11:g.43091434C>T
NG_005905.2:g.126550G>A
NG_087068.1:g.416C>T
NM_001407571.1:c.3883+1G>A
NM_001407581.1:c.4096+1G>A
NM_001407582.1:c.4096+1G>A
NM_001407583.1:c.4096+1G>A
NM_001407585.1:c.4096+1G>A
NM_001407587.1:c.4093+1G>A
NM_001407590.1:c.4093+1G>A
NM_001407591.1:c.4093+1G>A
NM_001407593.1:c.4096+1G>A
NM_001407594.1:c.4096+1G>A
NM_001407596.1:c.4096+1G>A
NM_001407597.1:c.4096+1G>A
NM_001407598.1:c.4096+1G>A
NM_001407602.1:c.4096+1G>A
NM_001407603.1:c.4096+1G>A
NM_001407605.1:c.4096+1G>A
NM_001407610.1:c.4093+1G>A
NM_001407611.1:c.4093+1G>A
NM_001407612.1:c.4093+1G>A
NM_001407613.1:c.4093+1G>A
NM_001407614.1:c.4093+1G>A
NM_001407615.1:c.4093+1G>A
NM_001407616.1:c.4096+1G>A
NM_001407617.1:c.4096+1G>A
NM_001407618.1:c.4096+1G>A
NM_001407619.1:c.4096+1G>A
NM_001407620.1:c.4096+1G>A
NM_001407621.1:c.4096+1G>A
NM_001407622.1:c.4096+1G>A
NM_001407623.1:c.4096+1G>A
NM_001407624.1:c.4096+1G>A
NM_001407625.1:c.4096+1G>A
NM_001407626.1:c.4096+1G>A
NM_001407627.1:c.4093+1G>A
NM_001407628.1:c.4093+1G>A
NM_001407629.1:c.4093+1G>A
NM_001407630.1:c.4093+1G>A
NM_001407631.1:c.4093+1G>A
NM_001407632.1:c.4093+1G>A
NM_001407633.1:c.4093+1G>A
NM_001407634.1:c.4093+1G>A
NM_001407635.1:c.4093+1G>A
NM_001407636.1:c.4093+1G>A
NM_001407637.1:c.4093+1G>A
NM_001407638.1:c.4093+1G>A
NM_001407639.1:c.4096+1G>A
NM_001407640.1:c.4096+1G>A
NM_001407641.1:c.4096+1G>A
NM_001407642.1:c.4096+1G>A
NM_001407644.1:c.4093+1G>A
NM_001407645.1:c.4093+1G>A
NM_001407646.1:c.4087+1G>A
NM_001407647.1:c.4087+1G>A
NM_001407648.1:c.3973+1G>A
NM_001407649.1:c.3970+1G>A
NM_001407652.1:c.4096+1G>A
NM_001407653.1:c.4018+1G>A
NM_001407654.1:c.4018+1G>A
NM_001407655.1:c.4018+1G>A
NM_001407656.1:c.4018+1G>A
NM_001407657.1:c.4018+1G>A
NM_001407658.1:c.4018+1G>A
NM_001407659.1:c.4015+1G>A
NM_001407660.1:c.4015+1G>A
NM_001407661.1:c.4015+1G>A
NM_001407662.1:c.4015+1G>A
NM_001407663.1:c.4018+1G>A
NM_001407664.1:c.3973+1G>A
NM_001407665.1:c.3973+1G>A
NM_001407666.1:c.3973+1G>A
NM_001407667.1:c.3973+1G>A
NM_001407668.1:c.3973+1G>A
NM_001407669.1:c.3973+1G>A
NM_001407670.1:c.3970+1G>A
NM_001407671.1:c.3970+1G>A
NM_001407672.1:c.3970+1G>A
NM_001407673.1:c.3970+1G>A
NM_001407674.1:c.3973+1G>A
NM_001407675.1:c.3973+1G>A
NM_001407676.1:c.3973+1G>A
NM_001407677.1:c.3973+1G>A
NM_001407678.1:c.3973+1G>A
NM_001407679.1:c.3973+1G>A
NM_001407680.1:c.3973+1G>A
NM_001407681.1:c.3973+1G>A
NM_001407682.1:c.3973+1G>A
NM_001407683.1:c.3973+1G>A
NM_001407684.1:c.4096+1G>A
NM_001407685.1:c.3970+1G>A
NM_001407686.1:c.3970+1G>A
NM_001407687.1:c.3970+1G>A
NM_001407688.1:c.3970+1G>A
NM_001407689.1:c.3970+1G>A
NM_001407690.1:c.3970+1G>A
NM_001407691.1:c.3970+1G>A
NM_001407692.1:c.3955+1G>A
NM_001407694.1:c.3955+1G>A
NM_001407695.1:c.3955+1G>A
NM_001407696.1:c.3955+1G>A
NM_001407697.1:c.3955+1G>A
NM_001407698.1:c.3955+1G>A
NM_001407724.1:c.3955+1G>A
NM_001407725.1:c.3955+1G>A
NM_001407726.1:c.3955+1G>A
NM_001407727.1:c.3955+1G>A
NM_001407728.1:c.3955+1G>A
NM_001407729.1:c.3955+1G>A
NM_001407730.1:c.3955+1G>A
NM_001407731.1:c.3955+1G>A
NM_001407732.1:c.3955+1G>A
NM_001407733.1:c.3955+1G>A
NM_001407734.1:c.3955+1G>A
NM_001407735.1:c.3955+1G>A
NM_001407736.1:c.3955+1G>A
NM_001407737.1:c.3955+1G>A
NM_001407738.1:c.3955+1G>A
NM_001407739.1:c.3955+1G>A
NM_001407740.1:c.3952+1G>A
NM_001407741.1:c.3952+1G>A
NM_001407742.1:c.3952+1G>A
NM_001407743.1:c.3952+1G>A
NM_001407744.1:c.3952+1G>A
NM_001407745.1:c.3952+1G>A
NM_001407746.1:c.3952+1G>A
NM_001407747.1:c.3952+1G>A
NM_001407748.1:c.3952+1G>A
NM_001407749.1:c.3952+1G>A
NM_001407750.1:c.3955+1G>A
NM_001407751.1:c.3955+1G>A
NM_001407752.1:c.3955+1G>A
NM_001407838.1:c.3952+1G>A
NM_001407839.1:c.3952+1G>A
NM_001407841.1:c.3952+1G>A
NM_001407842.1:c.3952+1G>A
NM_001407843.1:c.3952+1G>A
NM_001407844.1:c.3952+1G>A
NM_001407845.1:c.3952+1G>A
NM_001407846.1:c.3952+1G>A
NM_001407847.1:c.3952+1G>A
NM_001407848.1:c.3952+1G>A
NM_001407849.1:c.3952+1G>A
NM_001407850.1:c.3955+1G>A
NM_001407851.1:c.3955+1G>A
NM_001407852.1:c.3955+1G>A
NM_001407853.1:c.3883+1G>A
NM_001407854.1:c.4096+1G>A
NM_001407858.1:c.4096+1G>A
NM_001407859.1:c.4096+1G>A
NM_001407860.1:c.4093+1G>A
NM_001407861.1:c.4093+1G>A
NM_001407862.1:c.3895+1G>A
NM_001407863.1:c.3973+1G>A
NM_001407874.1:c.3892+1G>A
NM_001407875.1:c.3892+1G>A
NM_001407879.1:c.3886+1G>A
NM_001407881.1:c.3886+1G>A
NM_001407882.1:c.3886+1G>A
NM_001407884.1:c.3886+1G>A
NM_001407885.1:c.3886+1G>A
NM_001407886.1:c.3886+1G>A
NM_001407887.1:c.3886+1G>A
NM_001407889.1:c.3886+1G>A
NM_001407894.1:c.3883+1G>A
NM_001407895.1:c.3883+1G>A
NM_001407896.1:c.3883+1G>A
NM_001407897.1:c.3883+1G>A
NM_001407898.1:c.3883+1G>A
NM_001407899.1:c.3883+1G>A
NM_001407900.1:c.3886+1G>A
NM_001407902.1:c.3886+1G>A
NM_001407904.1:c.3886+1G>A
NM_001407906.1:c.3886+1G>A
NM_001407907.1:c.3886+1G>A
NM_001407908.1:c.3886+1G>A
NM_001407909.1:c.3886+1G>A
NM_001407910.1:c.3886+1G>A
NM_001407915.1:c.3883+1G>A
NM_001407916.1:c.3883+1G>A
NM_001407917.1:c.3883+1G>A
NM_001407918.1:c.3883+1G>A
NM_001407919.1:c.3973+1G>A
NM_001407920.1:c.3832+1G>A
NM_001407921.1:c.3832+1G>A
NM_001407922.1:c.3832+1G>A
NM_001407923.1:c.3832+1G>A
NM_001407924.1:c.3832+1G>A
NM_001407925.1:c.3832+1G>A
NM_001407926.1:c.3832+1G>A
NM_001407927.1:c.3832+1G>A
NM_001407928.1:c.3832+1G>A
NM_001407929.1:c.3832+1G>A
NM_001407930.1:c.3829+1G>A
NM_001407931.1:c.3829+1G>A
NM_001407932.1:c.3829+1G>A
NM_001407933.1:c.3832+1G>A
NM_001407934.1:c.3829+1G>A
NM_001407935.1:c.3832+1G>A
NM_001407936.1:c.3829+1G>A
NM_001407937.1:c.3973+1G>A
NM_001407938.1:c.3973+1G>A
NM_001407939.1:c.3973+1G>A
NM_001407940.1:c.3970+1G>A
NM_001407941.1:c.3970+1G>A
NM_001407942.1:c.3955+1G>A
NM_001407943.1:c.3952+1G>A
NM_001407944.1:c.3955+1G>A
NM_001407945.1:c.3955+1G>A
NM_001407946.1:c.3763+1G>A
NM_001407947.1:c.3763+1G>A
NM_001407948.1:c.3763+1G>A
NM_001407949.1:c.3763+1G>A
NM_001407950.1:c.3763+1G>A
NM_001407951.1:c.3763+1G>A
NM_001407952.1:c.3763+1G>A
NM_001407953.1:c.3763+1G>A
NM_001407954.1:c.3760+1G>A
NM_001407955.1:c.3760+1G>A
NM_001407956.1:c.3760+1G>A
NM_001407957.1:c.3763+1G>A
NM_001407958.1:c.3760+1G>A
NM_001407959.1:c.3715+1G>A
NM_001407960.1:c.3715+1G>A
NM_001407962.1:c.3712+1G>A
NM_001407963.1:c.3715+1G>A
NM_001407964.1:c.3952+1G>A
NM_001407965.1:c.3592+1G>A
NM_001407966.1:c.3208+1G>A
NM_001407967.1:c.3208+1G>A
NM_001407968.1:c.1492+1G>A
NM_001407969.1:c.1492+1G>A
NM_001407970.1:c.788-402G>A
NM_001407971.1:c.788-402G>A
NM_001407972.1:c.785-402G>A
NM_001407973.1:c.788-402G>A
NM_001407974.1:c.788-402G>A
NM_001407975.1:c.788-402G>A
NM_001407976.1:c.788-402G>A
NM_001407977.1:c.788-402G>A
NM_001407978.1:c.788-402G>A
NM_001407979.1:c.788-402G>A
NM_001407980.1:c.788-402G>A
NM_001407981.1:c.788-402G>A
NM_001407982.1:c.788-402G>A
NM_001407983.1:c.788-402G>A
NM_001407984.1:c.785-402G>A
NM_001407985.1:c.785-402G>A
NM_001407986.1:c.785-402G>A
NM_001407990.1:c.788-402G>A
NM_001407991.1:c.785-402G>A
NM_001407992.1:c.785-402G>A
NM_001407993.1:c.788-402G>A
NM_001408392.1:c.785-402G>A
NM_001408396.1:c.785-402G>A
NM_001408397.1:c.785-402G>A
NM_001408398.1:c.785-402G>A
NM_001408399.1:c.785-402G>A
NM_001408400.1:c.785-402G>A
NM_001408401.1:c.785-402G>A
NM_001408402.1:c.785-402G>A
NM_001408403.1:c.788-402G>A
NM_001408404.1:c.788-402G>A
NM_001408406.1:c.791-411G>A
NM_001408407.1:c.785-402G>A
NM_001408408.1:c.779-402G>A
NM_001408409.1:c.710-402G>A
NM_001408410.1:c.647-402G>A
NM_001408411.1:c.710-402G>A
NM_001408412.1:c.710-402G>A
NM_001408413.1:c.707-402G>A
NM_001408414.1:c.710-402G>A
NM_001408415.1:c.710-402G>A
NM_001408416.1:c.707-402G>A
NM_001408418.1:c.671-402G>A
NM_001408419.1:c.671-402G>A
NM_001408420.1:c.671-402G>A
NM_001408421.1:c.668-402G>A
NM_001408422.1:c.671-402G>A
NM_001408423.1:c.671-402G>A
NM_001408424.1:c.668-402G>A
NM_001408425.1:c.665-402G>A
NM_001408426.1:c.665-402G>A
NM_001408427.1:c.665-402G>A
NM_001408428.1:c.665-402G>A
NM_001408429.1:c.665-402G>A
NM_001408430.1:c.665-402G>A
NM_001408431.1:c.668-402G>A
NM_001408432.1:c.662-402G>A
NM_001408433.1:c.662-402G>A
NM_001408434.1:c.662-402G>A
NM_001408435.1:c.662-402G>A
NM_001408436.1:c.665-402G>A
NM_001408437.1:c.665-402G>A
NM_001408438.1:c.665-402G>A
NM_001408439.1:c.665-402G>A
NM_001408440.1:c.665-402G>A
NM_001408441.1:c.665-402G>A
NM_001408442.1:c.665-402G>A
NM_001408443.1:c.665-402G>A
NM_001408444.1:c.665-402G>A
NM_001408445.1:c.662-402G>A
NM_001408446.1:c.662-402G>A
NM_001408447.1:c.662-402G>A
NM_001408448.1:c.662-402G>A
NM_001408450.1:c.662-402G>A
NM_001408451.1:c.653-402G>A
NM_001408452.1:c.647-402G>A
NM_001408453.1:c.647-402G>A
NM_001408454.1:c.647-402G>A
NM_001408455.1:c.647-402G>A
NM_001408456.1:c.647-402G>A
NM_001408457.1:c.647-402G>A
NM_001408458.1:c.647-402G>A
NM_001408459.1:c.647-402G>A
NM_001408460.1:c.647-402G>A
NM_001408461.1:c.647-402G>A
NM_001408462.1:c.644-402G>A
NM_001408463.1:c.644-402G>A
NM_001408464.1:c.644-402G>A
NM_001408465.1:c.644-402G>A
NM_001408466.1:c.647-402G>A
NM_001408467.1:c.647-402G>A
NM_001408468.1:c.644-402G>A
NM_001408469.1:c.647-402G>A
NM_001408470.1:c.644-402G>A
NM_001408472.1:c.788-402G>A
NM_001408473.1:c.785-402G>A
NM_001408474.1:c.587-402G>A
NM_001408475.1:c.584-402G>A
NM_001408476.1:c.587-402G>A
NM_001408478.1:c.578-402G>A
NM_001408479.1:c.578-402G>A
NM_001408480.1:c.578-402G>A
NM_001408481.1:c.578-402G>A
NM_001408482.1:c.578-402G>A
NM_001408483.1:c.578-402G>A
NM_001408484.1:c.578-402G>A
NM_001408485.1:c.578-402G>A
NM_001408489.1:c.578-402G>A
NM_001408490.1:c.575-402G>A
NM_001408491.1:c.575-402G>A
NM_001408492.1:c.578-402G>A
NM_001408493.1:c.575-402G>A
NM_001408494.1:c.548-402G>A
NM_001408495.1:c.545-402G>A
NM_001408496.1:c.524-402G>A
NM_001408497.1:c.524-402G>A
NM_001408498.1:c.524-402G>A
NM_001408499.1:c.524-402G>A
NM_001408500.1:c.524-402G>A
NM_001408501.1:c.524-402G>A
NM_001408502.1:c.455-402G>A
NM_001408503.1:c.521-402G>A
NM_001408504.1:c.521-402G>A
NM_001408505.1:c.521-402G>A
NM_001408506.1:c.461-402G>A
NM_001408507.1:c.461-402G>A
NM_001408508.1:c.452-402G>A
NM_001408509.1:c.452-402G>A
NM_001408510.1:c.407-402G>A
NM_001408511.1:c.404-402G>A
NM_001408512.1:c.284-402G>A
NM_001408513.1:c.578-402G>A
NM_001408514.1:c.578-402G>A
NM_007294.4:c.4096+1G>AMANE SELECT
NM_007297.4:c.3955+1G>A
NM_007298.4:c.788-402G>A
NM_007299.4:c.788-402G>A
NM_007300.4:c.4096+1G>A
LRG_292t1:c.4096+1G>A
LRG_292:g.126550G>A
NC_000017.10:g.41243451C>T
NM_007294.3:c.4096+1G>A
U14680.1:n.4215+1G>A

Nucleotide change:

IVS11+1G>A

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4215+1&base_change=G to A; dbSNP: rs80358178

NCBI 1000 Genomes Browser:

rs80358178

Molecular consequence:

NM_001407970.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-411G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407581.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407582.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407583.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407585.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407587.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407590.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407591.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407593.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407594.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407596.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407597.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407598.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407602.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407603.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407605.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407610.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407611.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407612.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407613.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407614.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407615.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407616.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407617.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407618.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407619.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407620.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407621.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407622.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407623.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407624.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407625.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407626.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407627.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407628.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407629.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407630.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407631.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407632.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407633.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407634.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407635.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407636.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407637.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407638.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407639.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407640.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407641.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407642.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407644.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407645.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407646.1:c.4087+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407647.1:c.4087+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407648.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407649.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407652.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407653.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407654.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407655.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407656.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407657.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407658.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407659.1:c.4015+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407660.1:c.4015+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407661.1:c.4015+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407662.1:c.4015+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407663.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407664.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407665.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407666.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407667.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407668.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407669.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407670.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407671.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407672.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407673.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407674.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407675.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407676.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407677.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407678.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407679.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407680.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407681.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407682.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407683.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407684.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407685.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407686.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407687.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407688.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407689.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407690.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407691.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407692.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407694.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407695.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407696.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407697.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407698.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407724.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407725.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407726.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407727.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407728.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407729.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407730.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407731.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407732.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407733.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407734.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407735.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407736.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407737.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407738.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407739.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407740.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407741.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407742.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407743.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407744.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407745.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407746.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407747.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407748.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407749.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407750.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407751.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407752.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407838.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407839.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407841.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407842.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407843.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407844.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407845.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407846.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407847.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407848.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407849.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407850.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407851.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407852.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407853.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407854.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407858.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407859.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407860.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407861.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407862.1:c.3895+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407863.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407874.1:c.3892+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407875.1:c.3892+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407879.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407881.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407882.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407884.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407885.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407886.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407887.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407889.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407894.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407895.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407896.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407897.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407898.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407899.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407900.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407902.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407904.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407906.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407907.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407908.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407909.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407910.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407915.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407916.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407917.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407918.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407919.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407920.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407921.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407922.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407923.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407924.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407925.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407926.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407927.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407928.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407929.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407930.1:c.3829+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407931.1:c.3829+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407932.1:c.3829+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407933.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407934.1:c.3829+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407935.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407936.1:c.3829+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407937.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407938.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407939.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407940.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407941.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407942.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407943.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407944.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407945.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407946.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407947.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407948.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407949.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407950.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407951.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407952.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407953.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407954.1:c.3760+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407955.1:c.3760+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407956.1:c.3760+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407957.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407958.1:c.3760+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407959.1:c.3715+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407960.1:c.3715+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407962.1:c.3712+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407963.1:c.3715+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407964.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407965.1:c.3592+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407966.1:c.3208+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407967.1:c.3208+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407968.1:c.1492+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407969.1:c.1492+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007294.4:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007297.4:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007300.4:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210164	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Oct 6, 2023)	germline	clinical testing	Citation Link,
SCV000296390	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Nov 11, 2022)	unknown	clinical testing	PubMed (28) [See all records that cite these PMIDs] 25525159, 31159747, 32885271, 32895300, 24065114, 21156238, 16267036, 30675319, 31341520, 32438681, 27997688, 27197267, 11162473, 12890739, 22615956, 8972225, 11359908, 11431698, 16943438, 24569164, 27328445, 29116469, 29446198, 29433453, 26681312, 17011978, 26467025, 26295337
SCV003830125	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004140625	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Oct 1, 2023)	germline	clinical testing	Citation Link,
SCV005199720	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 27, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]

PMID:: 25525159
PMCID:: PMC4362528

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, et al.

BMC Cancer. 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4.

PubMed [citation]

PMID:: 31159747
PMCID:: PMC6547505

See all PubMed Citations (29)

Details of each submission

From GeneDx, SCV000210164.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Canonical splice site variant demonstrated to result in a shortened BRCA1 transcript lacking a large portion of exon 10, previously denoted exon 11, which is known as the delta11q isoform (Bonatti 2006); The resulting delta 11q isoform has also been observed in control individuals and normal tissue, therefore the clinical significance of this shortened transcript is indeterminate and this variant may confer risks lower than a typical BRCA1 pathogenic variant (Thakur 1997, Bonatti 2006, Colombo 2014); Observed in individuals with breast, ovarian, or prostate cancer (Bonatti 2006, Manguoglu 2010, Tung 2015, Brianese 2017, Ibrahim 2018, Slavin 2019, Santonocito 2020); Not observed at significant frequency in large population cohorts (gnomAD); Also known as 4215+1G>A and IVS11+1G>A; This variant is associated with the following publications: (PMID: 25525159, 11162473, 17011978, 8972225, 16943438, 11359908, 24569164, 27328445, 21156238, 28588062, 21523855, 28152038, 26269718, 24131973, 29433453, 29116469, 16267036, 29907814, 29922827, 29446198, 25186627, 28726806, 26681312, 32885271, 32438681, 30728895, 30675319, 31209999, 15343273, 20104584, 22737296, 32322110, 31341520, 36331686, 35150867, 30720243, 35132179, 31159747, 28888541)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296390.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (28)

Description

The frequency of this variant in the general population, 0.00026 (3/11482 chromosomes in Southern European subpopulation, http://gnomad.broadinstitute.org), is higher than would generally be expected for pathogenic variants in this gene. The BRCA1 c.4096+1G>A variant has been proven to result in production of a naturally occurring in-frame transcript ‘delta 11’ (PMID: 17011978 (2006), ENIGMA Consortium (Evidence-based Network for the Interpretation of Germline Mutant Alleles, http://www.enigmaconsortium.org/)) and may not exhibit the clinical characteristics of a standard high-risk pathogenic BRCA1 variant. The 'delta 11' isoform of BRCA1 has been shown to be naturally occurring and one of the most abundant alternatively spliced isoforms found in normal tissues, such as breast and lymphocytes (PMID: 24569164 (2014)). This variant has also been observed in individuals with breast and/or ovarian cancer (PMIDs: 17011978 (2006), 21156238 (2010), 27328445 (2016), 29116469 (2018), 30675319 (2019), 32438681 (2020), and 32885271 (2021)) and prostate cancer (PMID: 29433453 (2018)). Functional studies have indicated that BRCA1 isoforms without BRCA1 exon 11 are partially or fully functional (PMID: 8972225 (1997), 11359908 (2001), 16943438 (2006)). Based on the available information, we are unable to determine the clinical significance of this variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003830125.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV004140625.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

BRCA1: PVS1:Strong, PS3:Moderate, PM2:Supporting, BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005199720.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine